LOCUS       NM_178543               2016 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7
            (ENPP7), mRNA.
ACCESSION   NM_178543
VERSION     NM_178543.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2016)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2016)
  AUTHORS   Gorelik,A., Liu,F., Illes,K. and Nagar,B.
  TITLE     Crystal structure of the human alkaline sphingomyelinase provides
            insights into substrate recognition
  JOURNAL   J Biol Chem 292 (17), 7087-7094 (2017)
   PUBMED   28292932
  REMARK    GeneRIF: human alkaline sphingomyelinase crystal structure provides
            insights into substrate recognition
REFERENCE   3  (bases 1 to 2016)
  AUTHORS   Duan,R.D., Hindorf,U., Cheng,Y., Bergenzaun,P., Hall,M.,
            Hertervig,E. and Nilsson,A.
  TITLE     Changes of activity and isoforms of alkaline sphingomyelinase
            (nucleotide pyrophosphatase phosphodiesterase 7) in bile from
            patients undergoing endoscopic retrograde cholangiopancreatography
  JOURNAL   BMC Gastroenterol 14, 138 (2014)
   PUBMED   25100243
  REMARK    GeneRIF: NPP7 activity and the ratio of 1.4/1.2 kb products in bile
            are significantly decreased in malignancy, particularly in
            cholangiocarcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2016)
  AUTHORS   Parrill,A.L., Wanjala,I.W., Pham,T.C. and Baker,D.L.
  TITLE     Computational identification and experimental characterization of
            substrate binding determinants of nucleotide
            pyrophosphatase/phosphodiesterase 7
  JOURNAL   BMC Biochem 12, 65 (2011)
   PUBMED   22177013
  REMARK    GeneRIF: The F275A mutation of NPP7 showed impaired catalytic
            function whereas L107F mutation showed enhanced catalytic activity.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2016)
  AUTHORS   Duan,J., Wu,J., Cheng,Y. and Duan,R.D.
  TITLE     Understanding the molecular activity of alkaline sphingomyelinase
            (NPP7) by computer modeling
  JOURNAL   Biochemistry 49 (42), 9096-9105 (2010)
   PUBMED   20839774
  REMARK    GeneRIF: predict the three-dimensional structure of NPP7 by
            homology modeling using a recently crystallized NPP from bacteria.
            Using the model, we studied the substrate specificity of the enzyme
            by docking.
REFERENCE   6  (bases 1 to 2016)
  AUTHORS   Wu,J., Hansen,G.H., Nilsson,A. and Duan,R.D.
  TITLE     Functional studies of human intestinal alkaline sphingomyelinase by
            deglycosylation and mutagenesis
  JOURNAL   Biochem J 386 (Pt 1), 153-160 (2005)
   PUBMED   15458386
  REMARK    GeneRIF: alk-SMase activity is severely affected by defective
            N-glycosylation at 5 sites and by structural alterations of the
            putative metal-binding sites and the predicted active core.
REFERENCE   7  (bases 1 to 2016)
  AUTHORS   Wu,J., Liu,F., Nilsson,A. and Duan,R.D.
  TITLE     Pancreatic trypsin cleaves intestinal alkaline sphingomyelinase
            from mucosa and enhances the sphingomyelinase activity
  JOURNAL   Am J Physiol Gastrointest Liver Physiol 287 (5), G967-G973 (2004)
   PUBMED   15205117
REFERENCE   8  (bases 1 to 2016)
  AUTHORS   Wu,J., Cheng,Y., Nilsson,A. and Duan,R.D.
  TITLE     Identification of one exon deletion of intestinal alkaline
            sphingomyelinase in colon cancer HT-29 cells and a
            differentiation-related expression of the wild-type enzyme in
            Caco-2 cells
  JOURNAL   Carcinogenesis 25 (8), 1327-1333 (2004)
   PUBMED   15016655
  REMARK    GeneRIF: intestinal alkaline sphingomyelinase may have a one-exon
            deletion in colon cancer cells
REFERENCE   9  (bases 1 to 2016)
  AUTHORS   Duan,R.D., Bergman,T., Xu,N., Wu,J., Cheng,Y., Duan,J.,
            Nelander,S., Palmberg,C. and Nilsson,A.
  TITLE     Identification of human intestinal alkaline sphingomyelinase as a
            novel ecto-enzyme related to the nucleotide phosphodiesterase
            family
  JOURNAL   J Biol Chem 278 (40), 38528-38536 (2003)
   PUBMED   12885774
  REMARK    GeneRIF: identified the amino acid and cDNA sequences of human
            intestinal alk-SMase, and found that it is a novel ecto-enzyme
            related to the ecto-nucleotide phosphodiesterase family with
            specific features essential for its SMase activity
REFERENCE   10 (bases 1 to 2016)
  AUTHORS   Duan,R.D., Cheng,Y., Hansen,G., Hertervig,E., Liu,J.J., Syk,I.,
            Sjostrom,H. and Nilsson,A.
  TITLE     Purification, localization, and expression of human intestinal
            alkaline sphingomyelinase
  JOURNAL   J Lipid Res 44 (6), 1241-1250 (2003)
   PUBMED   12671034
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC233701.6, DB187443.1 and
            BC041453.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 29, 2018 this sequence version replaced NM_178543.4.
            
            Summary: The protein encoded by this gene is an intestinal alkaline
            sphingomyelin phosphodiesterase that converts sphingomyelin to
            ceramide and phosphocholine. The encoded protein is anchored in the
            cell membrane, and it may function to protect the intestinal mucosa
            from inflammation and tumorigenesis. This protein is glycosylated
            and also exhibits lysophosphatidylcholine hydrolase activity.
            [provided by RefSeq, Oct 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY358622.1, AK126250.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000328313.10/
                                                ENSP00000332656.5
            RefSeq Select criteria           :: based on conservation,
                                                expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-160               AC233701.6         4328-4487           c
            161-724             DB187443.1         1-564
            725-2016            BC041453.1         548-1839
FEATURES             Location/Qualifiers
     source          1..2016
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..2016
                     /gene="ENPP7"
                     /gene_synonym="ALK-SMase; E-NPP 7; NPP-7; NPP7"
                     /note="ectonucleotide pyrophosphatase/phosphodiesterase 7"
                     /db_xref="GeneID:339221"
                     /db_xref="HGNC:HGNC:23764"
                     /db_xref="MIM:616997"
     exon            1..450
                     /gene="ENPP7"
                     /gene_synonym="ALK-SMase; E-NPP 7; NPP-7; NPP7"
                     /inference="alignment:Splign:2.1.0"
     CDS             198..1574
                     /gene="ENPP7"
                     /gene_synonym="ALK-SMase; E-NPP 7; NPP-7; NPP7"
                     /EC_number="3.1.4.12"
                     /note="alkaline sphingomyelinase; ectonucleotide
                     pyrophosphatase/phosphodiesterase family member 7;
                     intestinal alkaline sphingomyelinase; alkaline
                     sphingomyelin phosphodiesterase"
                     /codon_start=1
                     /product="ectonucleotide pyrophosphatase/phosphodiesterase
                     family member 7 precursor"
                     /protein_id="NP_848638.3"
                     /db_xref="CCDS:CCDS11763.1"
                     /db_xref="GeneID:339221"
                     /db_xref="HGNC:HGNC:23764"
                     /db_xref="MIM:616997"
                     /translation="MRGPAVLLTVALATLLAPGAGAPVQSQGSQNKLLLVSFDGFRWN
                     YDQDVDTPNLDAMARDGVKARYMTPAFVTMTSPCHFTLVTGKYIENHGVVHNMYYNTT
                     SKVKLPYHATLGIQRWWDNGSVPIWITAQRQGLRAGSFFYPGGNVTYQGVAVTRSRKE
                     GIAHNYKNETEWRANIDTVMAWFTEEDLDLVTLYFGEPDSTGHRYGPESPERREMVRQ
                     VDRTVGYLRESIARNHLTDRLNLIITSDHGMTTVDKRAGDLVEFHKFPNFTFRDIEFE
                     LLDYGPNGMLLPKEGRLEKVYDALKDAHPKLHVYKKEAFPEAFHYANNPRVTPLLMYS
                     DLGYVIHGRINVQFNNGEHGFDNKDMDMKTIFRAVGPSFRAGLEVEPFESVHVYELMC
                     RLLGIVPEANDGHLATLLPMLHTESALPPDGRPTLLPKGRSALPPSSRPLLVMGLLGT
                     VILLSEVA"
     exon            451..596
                     /gene="ENPP7"
                     /gene_synonym="ALK-SMase; E-NPP 7; NPP-7; NPP7"
                     /inference="alignment:Splign:2.1.0"
     exon            597..1223
                     /gene="ENPP7"
                     /gene_synonym="ALK-SMase; E-NPP 7; NPP-7; NPP7"
                     /inference="alignment:Splign:2.1.0"
     exon            1224..1443
                     /gene="ENPP7"
                     /gene_synonym="ALK-SMase; E-NPP 7; NPP-7; NPP7"
                     /inference="alignment:Splign:2.1.0"
     exon            1444..1590
                     /gene="ENPP7"
                     /gene_synonym="ALK-SMase; E-NPP 7; NPP-7; NPP7"
                     /inference="alignment:Splign:2.1.0"
     exon            1591..2016
                     /gene="ENPP7"
                     /gene_synonym="ALK-SMase; E-NPP 7; NPP-7; NPP7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1992..1997
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENPP7"
                     /gene_synonym="ALK-SMase; E-NPP 7; NPP-7; NPP7"
                     /note="hexamer: AATAAA"
     polyA_site      2016
                     /gene="ENPP7"
                     /gene_synonym="ALK-SMase; E-NPP 7; NPP-7; NPP7"
                     /note="major polyA site"
ORIGIN      
        1 acgcacgtga ggctgggacc aggggtggca ctgacacggc tggggagccc actcccgagg
       61 ttcgacccgg ggatgtgcac agccacattc caaaggcgca cgggatgaga tcagcccggg
      121 tgaccctggg actttgtcct cctcggcagg agccagccct gtgcaccctg tgtgcctgtc
      181 catctggaag gcccagcatg agaggcccgg ccgtcctcct cactgtggct ctggccacgc
      241 tcctggctcc cggggccgga gcaccggtac aaagtcaggg ctcccagaac aagctgctcc
      301 tggtgtcctt cgacggcttc cgctggaact acgaccagga cgtggacacc cccaacctgg
      361 acgccatggc ccgagacggg gtgaaggcac gctacatgac ccccgccttt gtcaccatga
      421 ccagcccctg ccacttcacc ctggtcaccg gcaaatatat cgagaaccac ggggtggttc
      481 acaacatgta ctacaacacc accagcaagg tgaagctgcc ctaccacgcc acgctgggca
      541 tccagaggtg gtgggacaac ggcagcgtgc ccatctggat cacagcccag aggcagggcc
      601 tgagggctgg ctccttcttc tacccgggcg ggaacgtcac ctaccaaggg gtggctgtga
      661 cgcggagccg gaaagaaggc atcgcacaca actacaaaaa tgagacggag tggagagcga
      721 acatcgacac agtgatggcg tggttcacag aggaggacct ggatctggtc acactctact
      781 tcggggagcc ggactccacg ggccacaggt acggccccga gtccccggag aggagggaga
      841 tggtgcggca ggtggaccgg accgtgggct acctccggga gagcatcgcg cgcaaccacc
      901 tcacagaccg cctcaacctg atcatcacat ccgaccacgg catgacgacc gtggacaaac
      961 gggctggcga cctggttgaa ttccacaagt tccccaactt caccttccgg gacatcgagt
     1021 ttgagctcct ggactacgga ccaaacggga tgctgctccc taaagaaggg aggctggaga
     1081 aggtgtacga tgccctcaag gacgcccacc ccaagctcca cgtctacaag aaggaggcgt
     1141 tccccgaggc cttccactac gccaacaacc ccagggtcac acccctgctg atgtacagcg
     1201 accttggcta cgtcatccat gggagaatta acgtccagtt caacaatggg gagcacggct
     1261 ttgacaacaa ggacatggac atgaagacca tcttccgcgc tgtgggccct agcttcaggg
     1321 cgggcctgga ggtggagccc tttgagagcg tccacgtgta cgagctcatg tgccggctgc
     1381 tgggcatcgt gcccgaggcc aacgatgggc acctagctac tctgctgccc atgctgcaca
     1441 cagaatctgc tcttccgcct gatggaaggc ctactctcct gcccaaggga agatctgctc
     1501 tcccgcccag cagcaggccc ctcctcgtga tgggactgct ggggaccgtg attcttctgt
     1561 ctgaggtcgc ataacgcccc atggctcaag gaagccgccg ggagctgccc gcaggccctg
     1621 ggccggctgt ctcgctgcga tgctctgctg gtcgcggacg gaccctgcct ccccagctta
     1681 tcccaggcca gaggctgcat gccactgtcc ccggcagcgc caacccctgc ttggctgtta
     1741 tggtgctggt aataagcctc gcagcccagg tccagagccc ccggcgagcc ggtcccataa
     1801 ccggccccct gcccctgccc ctgctcctgc tcctcccctt cgggccccct cctcctgcaa
     1861 aacccgctcc cgaagcggcg ctgccgtctg cagccacgcg ggggcgcgcg ggagctctgc
     1921 gggcgctgga acctgcagac ccggcctcgg tcagctggga ggggcccgcc ccggcacaaa
     1981 gcacccatgg gaataaaggc caagccgcga cagtca
//
